ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2296+27T>G

gnomAD frequency: 0.47876  dbSNP: rs28394191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541715 SCV001759746 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543272 SCV001761810 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541715 SCV005240616 benign not provided criteria provided, single submitter not provided

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